Efemp2^tm1.1Chu

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Species

Mus musculus

Symbol

Efemp2^tm1.1Chu

Category

allele

Allele of gene

Efemp2

Transgenic Constructs

None

Synonyms

• Fbln4^E57K

Description

The targeting construct is designed to insert a loxP- and FRT-flanked neomycin resistance cassette, in reverse orientation, downstream of exon 4. The E57K point mutation (GAG to AAG) was introduced in exon 4 resulting in a missense mutation. E57K is found in patients with autosomal recessive cutis laxa (ARCL) 1B. Flp-mediated recombination removed the FRT-flanked neo cassette.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations